Department of Radiotherapy and Chemotherapy, Hwamei Hospital, University of Chinese Academy Of Sciences, No.41 Northwest Street, Haishu District, Ningbo, 315010, Zhejiang, China.
Burning Rock Biotech, Guangzhou, 510300, China.
Diagn Pathol. 2019 Sep 4;14(1):101. doi: 10.1186/s13000-019-0874-5.
The accurate identification of the tissue of origin is critical for optimal management of cancer patients particularly those who develop multiple malignancies; however, conventional diagnostic methods at times may fail to provide conclusive diagnosis of the origin of the malignancy. Herein, we describe the use of targeted sequencing in distinguishing the primary and metastatic tumors in a patient with metachronous malignancies in the lung, colon and kidney.
In December 2016, a 55-year-old Chinese male was diagnosed with stage IB lung adenosquamous carcinoma and treated with left lower lobectomy and 4 cycles of platinum-based chemotherapy. After being disease-free for 3.5 months, three colonic polyps were discovered and were diagnosed as invasive adenocarcinoma after polypectomy. Within 5.4 months from the polypectomy, squamous cell renal carcinoma was identified and was managed by radical nephrectomy. Immunohistochemistry results were inconclusive on the origin of the kidney tumor. Hence, the three archived surgical tissue samples were sequenced using a targeted panel with 520 cancer-related genes. Analysis revealed similar mutational signature between the lung and kidney tumors and a distinct mutational profile for the colon tumor, suggesting that the lung and colon malignancies were primary tumors, while the kidney tumor originated from the lung, revealing a diagnosis of metastatic double primary cancer - lung carcinoma with renal cell metastasis and second primary colon carcinoma.
Mutational profiling using targeted sequencing is valuable not only for the detection of actionable mutations, but also in the identification of the origin of tumors. This diagnostic approach should be considered in similar scenarios.
准确识别肿瘤起源对于癌症患者的最佳管理至关重要，尤其是那些同时患有多种恶性肿瘤的患者；然而，传统的诊断方法有时可能无法提供恶性肿瘤起源的明确诊断。在此，我们描述了靶向测序在区分一名同时患有肺部、结肠和肾脏恶性肿瘤的患者的原发性和转移性肿瘤中的应用。
2016 年 12 月，一名 55 岁的中国男性被诊断为 IB 期肺腺鳞癌，并接受了左下肺叶切除术和 4 个周期的铂类化疗。无病生存 3.5 个月后，发现三个结肠息肉，息肉切除后诊断为浸润性腺癌。在息肉切除后 5.4 个月，发现了鳞状细胞肾细胞癌，并接受了根治性肾切除术。肾脏肿瘤的免疫组织化学结果无法明确其起源。因此，对三个存档的手术组织样本进行了 520 个与癌症相关基因的靶向panel 测序。分析显示，肺部和肾脏肿瘤之间存在相似的突变特征，而结肠肿瘤则具有独特的突变谱，提示肺部和结肠恶性肿瘤为原发性肿瘤，而肾脏肿瘤来源于肺部，诊断为转移性双原发性癌-肺腺癌伴肾细胞转移和第二原发性结肠癌。
靶向测序的突变分析不仅对检测可操作的突变有价值，而且对肿瘤的起源也有帮助。在类似情况下应考虑这种诊断方法。
